Severe microcephaly

Gene: ERCC4

Green List (high evidence)

ERCC4 (ERCC excision repair 4, endonuclease catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000175595
EnsemblGeneIds (GRCh37): ENSG00000175595
OMIM: 133520, Gene2Phenotype
ERCC4 is in 19 panels

1 review

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Red to Green: 3 cases linking fanconi anaemia and ERCC4 and a further case linking ERCC4 to pre-natal microcephaly.
Created: 9 Feb 2017, 2:29 p.m.
PMID:23623389 (Kashiyanma et al., 2013) present a patient (CS1USAU) with Cockayne syndrome who was prenatally diagnosed with microcephaly; the patient was compound heterozygous for mutations in ERCC4. They present another patient (XPCS1CD) with compound heterozygous mutations in ERCC4 and clinical features of Fanconi anaemia.
Created: 9 Feb 2017, 2:28 p.m.
Bogliolo et al. (PMID:23623386) report 2 unrelated Fanconi anaemia patients (German and Spanish) with compound heterozygous ERCC4 mutations.
Created: 9 Feb 2017, 2:25 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Fanconi anemia, complementation group Q, 61527


History Filter Activity

2 Mar 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.

9 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

9 Feb 2017, Gel status: 0


Rebecca Foulger (Genomics England curator)

ERCC4 was created by rfoulger

9 Feb 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

ERCC4 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Literature,Other